A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350977



Internal ID22139056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3329166..3329278hg38UCSC Ensembl
chrX:3247207..3247319hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192213
Supporting Variants
SamplesHG00513
Known GenesMXRA5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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